Next-Generation Sequencing and Variant Cataloguing for Screening and Diagnosis of Mucolipidoses and Other Lysosome-Related Organelle Disorders, Including Lysosomal Membrane or Transport Disorders
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Next-generation sequencing (NGS) has transformed the diagnostic landscape for inherited metabolic diseases by enabling high-resolution detection of pathogenic variants across genetically heterogeneous lysosomal pathways. This is particularly impactful for lyso... ...
